Incidental Mutation 'IGL01295:Dvl2'
ID73075
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dvl2
Ensembl Gene ENSMUSG00000020888
Gene Namedishevelled segment polarity protein 2
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.806) question?
Stock #IGL01295
Quality Score
Status
Chromosome11
Chromosomal Location70000595-70012301 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 70009584 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 735 (V735F)
Ref Sequence ENSEMBL: ENSMUSP00000140073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018718] [ENSMUST00000019362] [ENSMUST00000102574] [ENSMUST00000102575] [ENSMUST00000190940]
Predicted Effect probably benign
Transcript: ENSMUST00000018718
SMART Domains Protein: ENSMUSP00000018718
Gene: ENSMUSG00000018574

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_N 74 188 4.4e-22 PFAM
Pfam:Acyl-CoA_dh_M 192 245 5.1e-20 PFAM
Pfam:Acyl-CoA_dh_1 306 455 6.7e-41 PFAM
Pfam:Acyl-CoA_dh_2 321 445 2.8e-12 PFAM
Blast:HisKA 460 557 6e-10 BLAST
low complexity region 558 569 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000019362
AA Change: V735F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000019362
Gene: ENSMUSG00000020888
AA Change: V735F

DomainStartEndE-ValueType
DAX 11 93 2.31e-56 SMART
Pfam:Dishevelled 103 263 1.5e-60 PFAM
PDZ 276 355 1.65e-15 SMART
low complexity region 395 407 N/A INTRINSIC
DEP 433 507 6.6e-29 SMART
Pfam:Dsh_C 515 726 1.1e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083600
Predicted Effect probably benign
Transcript: ENSMUST00000102574
SMART Domains Protein: ENSMUSP00000099634
Gene: ENSMUSG00000018574

DomainStartEndE-ValueType
Pfam:Acyl-CoA_dh_N 96 210 2.5e-25 PFAM
Pfam:Acyl-CoA_dh_M 214 316 5.5e-25 PFAM
Pfam:Acyl-CoA_dh_1 328 477 2.5e-41 PFAM
Pfam:Acyl-CoA_dh_2 343 467 8.7e-14 PFAM
Blast:HisKA 482 579 7e-10 BLAST
low complexity region 580 591 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000102575
AA Change: V735F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099635
Gene: ENSMUSG00000020888
AA Change: V735F

DomainStartEndE-ValueType
DAX 11 93 2.31e-56 SMART
low complexity region 112 122 N/A INTRINSIC
Pfam:Dishevelled 160 232 8.1e-27 PFAM
low complexity region 250 262 N/A INTRINSIC
PDZ 276 355 1.65e-15 SMART
low complexity region 395 407 N/A INTRINSIC
DEP 433 507 6.6e-29 SMART
Pfam:Dsh_C 515 726 1.3e-79 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130820
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134516
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137187
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149477
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152732
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156733
Predicted Effect possibly damaging
Transcript: ENSMUST00000190940
AA Change: V735F

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140073
Gene: ENSMUSG00000020888
AA Change: V735F

DomainStartEndE-ValueType
DAX 11 93 2.31e-56 SMART
low complexity region 112 122 N/A INTRINSIC
Pfam:Dishevelled 160 232 8.1e-27 PFAM
low complexity region 250 262 N/A INTRINSIC
PDZ 276 355 1.65e-15 SMART
low complexity region 395 407 N/A INTRINSIC
DEP 433 507 6.6e-29 SMART
Pfam:Dsh_C 515 726 1.3e-79 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the dishevelled (dsh) protein family. The vertebrate dsh proteins have approximately 40% amino acid sequence similarity with Drosophila dsh. This gene encodes a 90-kD protein that undergoes posttranslational phosphorylation to form a 95-kD cytoplasmic protein, which may play a role in the signal transduction pathway mediated by multiple Wnt proteins. The mechanisms of dishevelled function in Wnt signaling are likely to be conserved among metazoans. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice show incomplete penetrance of perinatal lethality with surviving mice being predominantly female. Defects include cardiovascular outflow and neural tube abnormalities, malformations of vertebrae and ribs, and irregular somite segmentation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik G T 14: 32,661,936 L691I possibly damaging Het
Ano7 A G 1: 93,380,478 D77G probably benign Het
Apol10b A T 15: 77,585,596 V127E probably damaging Het
Apol11b G A 15: 77,638,019 T26M probably damaging Het
Atn1 T C 6: 124,749,276 E80G probably damaging Het
Carmil2 T C 8: 105,695,516 M1139T probably benign Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Celf5 G T 10: 81,467,080 probably benign Het
Chd6 G A 2: 160,988,370 probably benign Het
Col12a1 A T 9: 79,643,926 V2136E probably damaging Het
Col4a1 G T 8: 11,236,075 probably benign Het
Dph1 A G 11: 75,180,949 probably benign Het
Eif3b A G 5: 140,441,740 I709V possibly damaging Het
Elp5 C T 11: 69,968,470 probably benign Het
Exd1 A T 2: 119,530,079 probably benign Het
Fbxl4 C A 4: 22,427,348 R530S probably benign Het
Fmo4 A T 1: 162,799,124 D284E probably damaging Het
Fn3krp A G 11: 121,421,554 Y31C probably damaging Het
Galnt14 G T 17: 73,504,919 Q436K probably benign Het
Gm5114 A T 7: 39,407,817 W793R probably damaging Het
Gm9376 T G 14: 118,267,647 S164A possibly damaging Het
Gtf2ird2 G A 5: 134,192,764 D69N probably damaging Het
Hfm1 A C 5: 106,917,606 M69R possibly damaging Het
Ighv9-1 A C 12: 114,093,999 S94A probably damaging Het
Ikzf2 C T 1: 69,577,987 R67H probably benign Het
Ipcef1 A T 10: 6,900,642 F316L probably damaging Het
Kdsr A G 1: 106,755,457 V62A possibly damaging Het
Kif23 A T 9: 61,932,129 C279S possibly damaging Het
Klf5 C T 14: 99,301,721 T110I probably benign Het
Klhl25 T A 7: 75,865,872 H175Q probably benign Het
Malrd1 G A 2: 16,101,957 probably null Het
Nfatc4 T C 14: 55,832,505 V710A probably benign Het
Olfr1404 A T 1: 173,215,873 Y74F probably damaging Het
Olfr68 C T 7: 103,778,241 V35I probably benign Het
Optn G A 2: 5,033,156 T409I possibly damaging Het
Pabpc2 T A 18: 39,774,029 Y116N probably damaging Het
Pafah1b1 G T 11: 74,683,647 R238S probably damaging Het
Pdzd9 C T 7: 120,668,395 G66R probably damaging Het
Pih1d1 T C 7: 45,159,964 L285P probably damaging Het
Pirb G A 7: 3,717,406 P323S probably damaging Het
Pkd1l1 A G 11: 8,933,685 F396L possibly damaging Het
Pla2g4d G A 2: 120,281,726 T108M probably damaging Het
Plin3 T C 17: 56,279,814 Y411C probably damaging Het
Ppfibp2 T C 7: 107,747,539 probably benign Het
Prrc2c T C 1: 162,682,492 S995G probably damaging Het
Ptf1a T C 2: 19,446,618 I253T probably damaging Het
Ptprb A G 10: 116,362,648 I1684V probably benign Het
Ptprk G A 10: 28,475,178 V556I probably benign Het
Rffl A T 11: 82,818,457 C47S probably damaging Het
Rnf17 C T 14: 56,463,064 Q569* probably null Het
Shprh A G 10: 11,183,868 E1121G probably damaging Het
Slc1a5 A G 7: 16,795,862 D402G probably damaging Het
Slc24a3 G A 2: 145,616,714 probably null Het
Slc2a13 T A 15: 91,350,132 probably null Het
Slc30a8 A T 15: 52,306,559 N61Y possibly damaging Het
Slitrk6 A T 14: 110,751,436 S280T possibly damaging Het
Smad2 G A 18: 76,302,430 A365T probably benign Het
Tcp10b C T 17: 13,080,160 P367S probably damaging Het
Tdp1 A G 12: 99,891,670 N163D probably benign Het
Thbs1 A G 2: 118,118,327 D488G possibly damaging Het
Trappc12 C T 12: 28,746,762 S257N probably damaging Het
Treml1 T C 17: 48,365,599 probably benign Het
Ugt2b36 A G 5: 87,080,885 V234A probably damaging Het
Vmn2r86 T G 10: 130,453,026 H202P probably damaging Het
Vmn2r87 C A 10: 130,472,009 V787F probably damaging Het
Wbp2nl T A 15: 82,306,418 M129K probably damaging Het
Zdhhc15 T C X: 104,544,913 probably null Het
Other mutations in Dvl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01465:Dvl2 APN 11 70006354 missense probably damaging 1.00
IGL01920:Dvl2 APN 11 70008047 missense probably benign 0.02
IGL01985:Dvl2 APN 11 70008293 missense probably damaging 1.00
IGL02071:Dvl2 APN 11 70004800 splice site probably null
IGL02110:Dvl2 APN 11 70008016 splice site probably benign
IGL03132:Dvl2 APN 11 70005688 missense probably benign 0.01
R0076:Dvl2 UTSW 11 70008100 missense probably damaging 0.99
R0076:Dvl2 UTSW 11 70008100 missense probably damaging 0.99
R0331:Dvl2 UTSW 11 70006217 splice site probably benign
R0335:Dvl2 UTSW 11 70001035 splice site probably benign
R1187:Dvl2 UTSW 11 70006136 missense probably benign 0.05
R1552:Dvl2 UTSW 11 70006372 missense possibly damaging 0.92
R1726:Dvl2 UTSW 11 70009461 missense probably benign
R3103:Dvl2 UTSW 11 70008869 missense possibly damaging 0.82
R4688:Dvl2 UTSW 11 70007518 missense possibly damaging 0.82
R4812:Dvl2 UTSW 11 70011293 utr 3 prime probably benign
R5319:Dvl2 UTSW 11 70008131 missense possibly damaging 0.91
R5521:Dvl2 UTSW 11 70006407 missense probably damaging 0.98
R5647:Dvl2 UTSW 11 70009449 missense possibly damaging 0.91
R5721:Dvl2 UTSW 11 70005993 missense possibly damaging 0.95
R6053:Dvl2 UTSW 11 70005993 missense possibly damaging 0.95
R6812:Dvl2 UTSW 11 70000995 missense probably damaging 1.00
R6818:Dvl2 UTSW 11 70009273 missense probably damaging 0.98
R7843:Dvl2 UTSW 11 70008786 missense probably benign 0.04
R7926:Dvl2 UTSW 11 70008786 missense probably benign 0.04
Posted On2013-10-07